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Article

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.

Clinical chemistry - 1 Feb 2012

Chen Wuyan, Xu Zhi, Sullivan Annie, Finkielstain Gabriela P, Van Ryzin Carol, Merke Deborah P, McDonnell Nazli B

Abstract excerpt

BACKGROUND: Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and its highly homologous pseudogene CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), are common in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). A comprehensive junction site analysis...

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Identifiers

PMID: 22156666
DOI: 10.1373/clinchem.2011.174037
PMCID: PMC5576027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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